Literature DB >> 29440325

Genetics of Multiple Sclerosis: An Overview and New Directions.

Nikolaos A Patsopoulos1,2.   

Abstract

The contribution of genetic inheritance in multiple sclerosis was established early on. Although multiple sclerosis is not a Mendelian disease, its incidence and prevalence is higher in family members of affected individuals compared with the general population. Throughout the last decade, several small studies failed to identify any robust genetic associations besides the classic associations in the major histocompatibility complex region. During the past few years, genome-wide association studies (GWAS) have revolutionized the genetics of multiple sclerosis, uncovering more than 200 implicated genetic loci. Here, we describe these main findings and discuss the new avenues that these discoveries lay open.
Copyright © 2018 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2018        PMID: 29440325      PMCID: PMC6027932          DOI: 10.1101/cshperspect.a028951

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   6.915


  111 in total

1.  Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.

Authors:  Sandra Nischwitz; Sabine Cepok; Antje Kroner; Christiane Wolf; Matthias Knop; Felix Müller-Sarnowski; Hildegard Pfister; Darina Roeske; Peter Rieckmann; Bernhard Hemmer; Marcus Ising; Manfred Uhr; Thomas Bettecken; Florian Holsboer; Bertram Müller-Myhsok; Frank Weber
Journal:  J Neuroimmunol       Date:  2010-07-02       Impact factor: 3.478

Review 2.  What can mendelian randomisation tell us about modifiable behavioural and environmental exposures?

Authors:  George Davey Smith; Shah Ebrahim
Journal:  BMJ       Date:  2005-05-07

Review 3.  The pleiotropic structure of the genotype-phenotype map: the evolvability of complex organisms.

Authors:  Günter P Wagner; Jianzhi Zhang
Journal:  Nat Rev Genet       Date:  2011-03       Impact factor: 53.242

4.  Shared environmental effects on multiple sclerosis susceptibility: conflicting evidence from twin studies.

Authors:  Corrado Fagnani; Vito A G Ricigliano; Maria Chiara Buscarinu; Lorenza Nisticò; Marco Salvetti; Maria Antonietta Stazi; Giovanni Ristori
Journal:  Brain       Date:  2014-04-15       Impact factor: 13.501

5.  Human Epistatic Interaction Controls IL7R Splicing and Increases Multiple Sclerosis Risk.

Authors:  Gaddiel Galarza-Muñoz; Farren B S Briggs; Irina Evsyukova; Geraldine Schott-Lerner; Edward M Kennedy; Tinashe Nyanhete; Liuyang Wang; Laura Bergamaschi; Steven G Widen; Georgia D Tomaras; Dennis C Ko; Shelton S Bradrick; Lisa F Barcellos; Simon G Gregory; Mariano A Garcia-Blanco
Journal:  Cell       Date:  2017-03-23       Impact factor: 41.582

6.  On the origins of the Mendelian laws.

Authors:  F Monaghan; A Corcos
Journal:  J Hered       Date:  1984 Jan-Feb       Impact factor: 2.645

7.  TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis.

Authors:  Adam P Gregory; Calliope A Dendrou; Kathrine E Attfield; Aiden Haghikia; Dionysia K Xifara; Falk Butter; Gereon Poschmann; Gurman Kaur; Lydia Lambert; Oliver A Leach; Simone Prömel; Divya Punwani; James H Felce; Simon J Davis; Ralf Gold; Finn C Nielsen; Richard M Siegel; Matthias Mann; John I Bell; Gil McVean; Lars Fugger
Journal:  Nature       Date:  2012-08-23       Impact factor: 49.962

8.  Multiple sclerosis susceptibility alleles in African Americans.

Authors:  B A Johnson; J Wang; E M Taylor; S J Caillier; J Herbert; O A Khan; A H Cross; P L De Jager; P-A F Gourraud; B C A Cree; S L Hauser; J R Oksenberg
Journal:  Genes Immun       Date:  2009-10-29       Impact factor: 2.676

9.  Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Authors:  Luke Jostins; Stephan Ripke; Rinse K Weersma; Richard H Duerr; Dermot P McGovern; Ken Y Hui; James C Lee; L Philip Schumm; Yashoda Sharma; Carl A Anderson; Jonah Essers; Mitja Mitrovic; Kaida Ning; Isabelle Cleynen; Emilie Theatre; Sarah L Spain; Soumya Raychaudhuri; Philippe Goyette; Zhi Wei; Clara Abraham; Jean-Paul Achkar; Tariq Ahmad; Leila Amininejad; Ashwin N Ananthakrishnan; Vibeke Andersen; Jane M Andrews; Leonard Baidoo; Tobias Balschun; Peter A Bampton; Alain Bitton; Gabrielle Boucher; Stephan Brand; Carsten Büning; Ariella Cohain; Sven Cichon; Mauro D'Amato; Dirk De Jong; Kathy L Devaney; Marla Dubinsky; Cathryn Edwards; David Ellinghaus; Lynnette R Ferguson; Denis Franchimont; Karin Fransen; Richard Gearry; Michel Georges; Christian Gieger; Jürgen Glas; Talin Haritunians; Ailsa Hart; Chris Hawkey; Matija Hedl; Xinli Hu; Tom H Karlsen; Limas Kupcinskas; Subra Kugathasan; Anna Latiano; Debby Laukens; Ian C Lawrance; Charlie W Lees; Edouard Louis; Gillian Mahy; John Mansfield; Angharad R Morgan; Craig Mowat; William Newman; Orazio Palmieri; Cyriel Y Ponsioen; Uros Potocnik; Natalie J Prescott; Miguel Regueiro; Jerome I Rotter; Richard K Russell; Jeremy D Sanderson; Miquel Sans; Jack Satsangi; Stefan Schreiber; Lisa A Simms; Jurgita Sventoraityte; Stephan R Targan; Kent D Taylor; Mark Tremelling; Hein W Verspaget; Martine De Vos; Cisca Wijmenga; David C Wilson; Juliane Winkelmann; Ramnik J Xavier; Sebastian Zeissig; Bin Zhang; Clarence K Zhang; Hongyu Zhao; Mark S Silverberg; Vito Annese; Hakon Hakonarson; Steven R Brant; Graham Radford-Smith; Christopher G Mathew; John D Rioux; Eric E Schadt; Mark J Daly; Andre Franke; Miles Parkes; Severine Vermeire; Jeffrey C Barrett; Judy H Cho
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

10.  Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.

Authors:  Till F M Andlauer; Dorothea Buck; Gisela Antony; Antonios Bayas; Lukas Bechmann; Achim Berthele; Andrew Chan; Christiane Gasperi; Ralf Gold; Christiane Graetz; Jürgen Haas; Michael Hecker; Carmen Infante-Duarte; Matthias Knop; Tania Kümpfel; Volker Limmroth; Ralf A Linker; Verena Loleit; Felix Luessi; Sven G Meuth; Mark Mühlau; Sandra Nischwitz; Friedemann Paul; Michael Pütz; Tobias Ruck; Anke Salmen; Martin Stangel; Jan-Patrick Stellmann; Klarissa H Stürner; Björn Tackenberg; Florian Then Bergh; Hayrettin Tumani; Clemens Warnke; Frank Weber; Heinz Wiendl; Brigitte Wildemann; Uwe K Zettl; Ulf Ziemann; Frauke Zipp; Janine Arloth; Peter Weber; Milena Radivojkov-Blagojevic; Markus O Scheinhardt; Theresa Dankowski; Thomas Bettecken; Peter Lichtner; Darina Czamara; Tania Carrillo-Roa; Elisabeth B Binder; Klaus Berger; Lars Bertram; Andre Franke; Christian Gieger; Stefan Herms; Georg Homuth; Marcus Ising; Karl-Heinz Jöckel; Tim Kacprowski; Stefan Kloiber; Matthias Laudes; Wolfgang Lieb; Christina M Lill; Susanne Lucae; Thomas Meitinger; Susanne Moebus; Martina Müller-Nurasyid; Markus M Nöthen; Astrid Petersmann; Rajesh Rawal; Ulf Schminke; Konstantin Strauch; Henry Völzke; Melanie Waldenberger; Jürgen Wellmann; Eleonora Porcu; Antonella Mulas; Maristella Pitzalis; Carlo Sidore; Ilenia Zara; Francesco Cucca; Magdalena Zoledziewska; Andreas Ziegler; Bernhard Hemmer; Bertram Müller-Myhsok
Journal:  Sci Adv       Date:  2016-06-17       Impact factor: 14.136

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  27 in total

1.  Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.

Authors: 
Journal:  Science       Date:  2019-09-27       Impact factor: 47.728

Review 2.  Genetics and functional genomics of multiple sclerosis.

Authors:  Woori Kim; Nikolaos A Patsopoulos
Journal:  Semin Immunopathol       Date:  2022-01-12       Impact factor: 9.623

3.  Genes associated with grey matter volume reduction in multiple sclerosis.

Authors:  Jie Sun; Yingying Xie; Qiuhui Wang; Junlin Shen; Wen Qin; Ningnannan Zhang; Chunshui Yu
Journal:  J Neurol       Date:  2021-08-29       Impact factor: 4.849

4.  Novel Heterozygous Variants in the HLA-DRB1 Gene in a Saudi Family With Early-Onset Familial Multiple Sclerosis: Therapeutic Failure and Success.

Authors:  Hussein Algahtani; Bader Shirah; Randa Khafaji; Sarah Algahtani
Journal:  Int J MS Care       Date:  2021-10-05

5.  Deep DNA metagenomic sequencing reveals oral microbiome divergence between monozygotic twins discordant for multiple sclerosis severity.

Authors:  Anne I Boullerne; Guy R Adami; Joel L Schwartz; Demetrios Skias; Mark Maienschein-Cline; Stefan J Green; Douglas L Feinstein
Journal:  J Neuroimmunol       Date:  2020-04-07       Impact factor: 3.478

Review 6.  Can tetracyclines ensure help in multiple sclerosis immunotherapy?

Authors:  Pedro Víctor-Carvalho; Rodolfo Thome; Catarina Rapôso
Journal:  J Clin Transl Res       Date:  2021-02-03

7.  Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.

Authors:  Antonio Alcina; Maria Fedetz; Isabel Vidal-Cobo; Eduardo Andrés-León; Maria-Isabel García-Sánchez; Alicia Barroso-Del-Jesus; Sara Eichau; Elia Gil-Varea; Albert Saiz; Laura Leyva; Koen Vandenbroeck; David Otaegui; Guillermo Izquierdo; Manuel Comabella; Elena Urcelay; Fuencisla Matesanz
Journal:  Hum Mol Genet       Date:  2022-07-07       Impact factor: 5.121

Review 8.  Interferons and Multiple Sclerosis: Lessons from 25 Years of Clinical and Real-World Experience with Intramuscular Interferon Beta-1a (Avonex).

Authors:  Stanley L Cohan; Barry A Hendin; Anthony T Reder; Kyle Smoot; Robin Avila; Jason P Mendoza; Bianca Weinstock-Guttman
Journal:  CNS Drugs       Date:  2021-07-06       Impact factor: 5.749

Review 9.  Microbiome in Multiple Sclerosis; Where Are We, What We Know and Do Not Know.

Authors:  Marina Kleopatra Boziki; Evangelia Kesidou; Paschalis Theotokis; Alexios-Fotios A Mentis; Eleni Karafoulidou; Mikhail Melnikov; Anastasia Sviridova; Vladimir Rogovski; Alexey Boyko; Nikolaos Grigoriadis
Journal:  Brain Sci       Date:  2020-04-14

10.  Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way.

Authors:  Zhijie Han; Jiaojiao Qu; Jiehong Zhao; Xiao Zou
Journal:  Biomed Res Int       Date:  2018-07-24       Impact factor: 3.411

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